ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.183C>T (p.Phe61=)

gnomAD frequency: 0.00009  dbSNP: rs571142873
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001510066 SCV001717003 benign Primary ciliary dyskinesia 2025-01-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV001510066 SCV005991019 likely benign Primary ciliary dyskinesia 2025-03-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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